Variant report

Variant	nsv887851
Chromosome Location	chr7:26236235-26248965
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1587)
CpG islands
(count:1527)
Chromatin interactive
region (count:150)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1587 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:26237645-26240934	K562	blood:	n/a	n/a
2	ARID3A	chr7:26237252-26237427	K562	blood:	n/a	n/a
3	ARID3A	chr7:26237364-26238112	HepG2	liver:	n/a	n/a
4	ARID3A	chr7:26240229-26241396	HepG2	liver:	n/a	chr7:26241058-26241066
5	ARID3A	chr7:26239009-26240013	HepG2	liver:	n/a	n/a
6	ATF1	chr7:26240214-26241459	K562	blood:	n/a	chr7:26240423-26240437
7	ATF2	chr7:26239235-26241418	GM12878	blood:	n/a	chr7:26240423-26240437
8	ATF2	chr7:26239389-26241173	GM12878	blood:	n/a	chr7:26240423-26240437
9	ATF2	chr7:26238799-26241193	H1-hESC	embryonic stem cell:	n/a	chr7:26240423-26240437
10	ATF2	chr7:26237016-26237532	GM12878	blood:	n/a	n/a
11	ATF2	chr7:26238593-26241105	H1-hESC	embryonic stem cell:	n/a	chr7:26240423-26240437
12	ATF2	chr7:26236836-26237454	GM12878	blood:	n/a	n/a
13	ATF2	chr7:26237987-26238603	H1-hESC	embryonic stem cell:	n/a	n/a
14	ATF2	chr7:26236389-26237131	H1-hESC	embryonic stem cell:	n/a	n/a
15	ATF2	chr7:26236394-26237018	H1-hESC	embryonic stem cell:	n/a	n/a
16	ATF3	chr7:26239344-26240799	A549	lung:	n/a	n/a
17	ATF3	chr7:26240144-26240758	K562	blood:	n/a	n/a
18	ATF3	chr7:26240677-26241174	A549	lung:	n/a	n/a
19	ATF3	chr7:26239741-26240497	A549	lung:	n/a	n/a
20	BACH1	chr7:26240239-26242359	H1-hESC	embryonic stem cell:	n/a	n/a
21	BACH1	chr7:26246622-26246670	K562	blood:	n/a	n/a
22	BACH1	chr7:26239432-26240344	K562	blood:	n/a	n/a
23	BCL11A	chr7:26240093-26240458	GM12878	blood:	n/a	n/a
24	BCL11A	chr7:26240808-26241385	GM12878	blood:	n/a	n/a
25	BCL3	chr7:26240019-26240600	K562	blood:	n/a	n/a
26	BCL3	chr7:26238938-26240758	A549	lung:	n/a	n/a
27	BCL3	chr7:26239873-26241142	A549	lung:	n/a	n/a
28	BCL3	chr7:26240870-26241538	GM12878	blood:	n/a	chr7:26241388-26241397
29	BCL3	chr7:26237613-26238833	A549	lung:	n/a	n/a
30	BCL3	chr7:26239335-26239748	A549	lung:	n/a	n/a
31	BCL3	chr7:26240120-26240494	GM12878	blood:	n/a	n/a
32	BCLAF1	chr7:26240661-26241591	GM12878	blood:	n/a	chr7:26241388-26241397
33	BCLAF1	chr7:26239392-26240604	GM12878	blood:	n/a	n/a
34	BCLAF1	chr7:26236532-26237586	GM12878	blood:	n/a	n/a
35	BCLAF1	chr7:26238854-26240657	GM12878	blood:	n/a	n/a
36	BCLAF1	chr7:26238925-26241630	K562	blood:	n/a	chr7:26241388-26241397
37	BCLAF1	chr7:26240786-26241613	GM12878	blood:	n/a	chr7:26241388-26241397
38	BCLAF1	chr7:26239878-26240489	K562	blood:	n/a	n/a
39	BHLHE40	chr7:26239435-26242156	K562	blood:	n/a	chr7:26241559-26241575 chr7:26241618-26241634 chr7:26241556-26241572 chr7:26242047-26242063
40	BHLHE40	chr7:26239673-26242127	HepG2	liver:	n/a	chr7:26241559-26241575 chr7:26241618-26241634 chr7:26241556-26241572 chr7:26242047-26242063
41	BHLHE40	chr7:26239612-26242521	GM12878	blood:	n/a	chr7:26241559-26241575 chr7:26241618-26241634 chr7:26241556-26241572 chr7:26242047-26242063
42	BHLHE40	chr7:26236629-26237507	GM12878	blood:	n/a	n/a
43	BHLHE40	chr7:26238388-26238394	GM12878	blood:	n/a	n/a
44	BRCA1	chr7:26237010-26237128	H1-hESC	embryonic stem cell:	n/a	n/a
45	BRCA1	chr7:26239566-26239758	Hela-S3	cervix:	n/a	n/a
46	BRCA1	chr7:26237805-26238005	Hela-S3	cervix:	n/a	n/a
47	BRCA1	chr7:26238909-26239353	Hela-S3	cervix:	n/a	n/a
48	BRCA1	chr7:26240844-26241037	HepG2	liver:	n/a	n/a
49	BRCA1	chr7:26242026-26242037	HepG2	liver:	n/a	n/a
50	BRCA1	chr7:26241350-26241616	GM12878	blood:	n/a	n/a

(count:1527 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:26240340-26240390	NHBE	bronchial:	n/a
2	chr7:26239440-26239490	SK-N-MC	brain:	n/a
3	chr7:26240340-26240390	NHBE	bronchial:	n/a
4	chr7:26239440-26239490	SK-N-MC	brain:	n/a
5	chr7:26239563-26239613	BE2_C	brain:	n/a
6	chr7:26239563-26239613	HEEpiC	esophagus:	n/a
7	chr7:26240087-26240137	SAEC	small airway:	n/a
8	chr7:26240523-26240573	Hepatocyte	liver:	n/a
9	chr7:26241064-26241114	ProgFib	skin:	n/a
10	chr7:26240443-26240493	K562	blood:	n/a
11	chr7:26240574-26240624	HPAEpiC	pulmonary alveolar:	n/a
12	chr7:26236721-26236771	AG10803	skin:	n/a
13	chr7:26240523-26240573	HRCEpiC	kidney:	n/a
14	chr7:26240939-26240989	AoSMC	blood vessel:	n/a
15	chr7:26240901-26240951	ovcar-3	ovarian:	n/a
16	chr7:26239440-26239490	HEEpiC	esophagus:	n/a
17	chr7:26240087-26240137	GM12891	blood:	n/a
18	chr7:26241406-26241456	BJ	skin:	n/a
19	chr7:26240470-26240520	BE2_C	brain:	n/a
20	chr7:26240903-26240953	HepG2	liver:	n/a
21	chr7:26239239-26239289	AG04450	lung:	fetal
22	chr7:26240675-26240725	Jurkat	blood:	n/a
23	chr7:26240675-26240725	LNCaP	prostate:	n/a
24	chr7:26240675-26240725	AoSMC	blood vessel:	n/a
25	chr7:26240087-26240137	RPTEC	kidney:	n/a
26	chr7:26239239-26239289	Jurkat	blood:	n/a
27	chr7:26240523-26240573	AG04450	lung:	fetal
28	chr7:26241071-26241121	MCF-7	breast:	n/a
29	chr7:26240901-26240951	NB4	blood:	n/a
30	chr7:26241406-26241456	PFSK-1	brain:	n/a
31	chr7:26240523-26240573	HRE	kidney:	n/a
32	chr7:26236721-26236771	MCF10A-Er-Src	breast:	n/a
33	chr7:26236721-26236771	SK-N-SH_RA	brain:	n/a
34	chr7:26240458-26240508	NH-A	brain:	n/a
35	chr7:26244131-26244181	NHDF-neo	bronchial:	n/a
36	chr7:26239563-26239613	CMK	blood:	n/a
37	chr7:26240560-26240610	HAEpiC	amniotic membrane:	n/a
38	chr7:26241406-26241456	IMR90	lung:	fetal
39	chr7:26240087-26240137	H1-hESC	embryonic stem cell:	embryo
40	chr7:26240903-26240953	HEK293	kidney:	embryo
41	chr7:26241071-26241121	AG09309	skin:	n/a
42	chr7:26240458-26240508	BE2_C	brain:	n/a
43	chr7:26240443-26240493	BJ	skin:	n/a
44	chr7:26241126-26241176	AG04450	lung:	fetal
45	chr7:26242932-26242982	HIPEpiC	eye:	n/a
46	chr7:26241064-26241114	PrEC	prostate:	n/a
47	chr7:26240340-26240390	MCF-7	breast:	n/a
48	chr7:26239563-26239613	Hepatocyte	liver:	n/a
49	chr7:26240901-26240951	HCM	heart:	n/a
50	chr7:26239440-26239490	AG09309	skin:	n/a

(count:150 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr11:64007751..64008560-chr7:26240100..26240712,2	Hela-S3	cervix:
2	chr6:17705801..17708591-chr7:26239203..26241423,2	K562	blood:
3	chr7:26245433..26248011-chr7:26331906..26333789,2	K562	blood:
4	chr7:26239878..26240463-chr7:116593578..116594221,2	Hela-S3	cervix:
5	chr5:131892889..131893622-chr7:26239822..26240389,2	Hela-S3	cervix:
6	chr2:46926271..46927170-chr7:26240072..26240761,2	Hela-S3	cervix:
7	chr15:91260025..91260965-chr7:26239886..26240499,2	Hela-S3	cervix:
8	chr6:35435995..35436585-chr7:26239889..26240720,2	HCT-116	colon:
9	chr20:43594796..43595718-chr7:26239835..26240809,2	Hela-S3	cervix:
10	chr7:26240257..26240815-chr7:100136639..100137141,2	Hela-S3	cervix:
11	chr22:46465571..46466541-chr7:26239658..26240354,3	Hela-S3	cervix:
12	chr5:33441124..33441874-chr7:26239930..26240541,2	Hela-S3	cervix:
13	chr7:26239115..26241411-chr7:26331558..26333591,3	K562	blood:
14	chr1:89149775..89150423-chr7:26239336..26240301,2	Hela-S3	cervix:
15	chr7:26234108..26236318-chr7:26400894..26402821,2	MCF-7	breast:
16	chr7:26238789..26244149-chr7:26328226..26335284,15	MCF-7	breast:
17	chr12:53400201..53400989-chr7:26240067..26240673,2	HCT-116	colon:
18	chr7:26185994..26190276-chr7:26237355..26239722,4	K562	blood:
19	chr7:26121029..26121778-chr7:26237338..26237969,2	MCF-7	breast:
20	chr1:46268308..46270413-chr7:26238840..26240934,2	MCF-7	breast:
21	chr3:161087820..161090854-chr7:26238154..26241381,3	MCF-7	breast:
22	chr12:46766153..46766956-chr7:26243095..26243758,2	NB4	blood:
23	chr19:12902297..12902808-chr7:26240171..26241133,2	Hela-S3	cervix:
24	chr17:56707690..56710549-chr7:26238057..26243004,5	MCF-7	breast:
25	chr4:6988415..6989407-chr7:26241102..26241602,2	Hela-S3	cervix:
26	chr1:154947092..154947828-chr7:26240057..26240643,2	Hela-S3	cervix:
27	chr7:26096714..26102069-chr7:26240159..26243560,6	MCF-7	breast:
28	chr7:25989265..25991851-chr7:26238825..26240746,4	MCF-7	breast:
29	chr11:47290636..47291503-chr7:26239910..26240778,2	Hela-S3	cervix:
30	chr7:26237797..26240269-chr7:26356166..26359044,2	MCF-7	breast:
31	chr3:195808089..195808909-chr7:26239810..26240342,2	Hela-S3	cervix:
32	chr4:1857374..1858198-chr7:26240255..26240981,2	HCT-116	colon:
33	chr20:61273225..61273955-chr7:26243356..26243856,2	Hela-S3	cervix:
34	chr16:1822747..1823541-chr7:26240242..26241079,2	Hela-S3	cervix:
35	chr3:11761954..11762497-chr7:26240054..26240593,2	Hela-S3	cervix:
36	chr2:101924901..101925450-chr7:26238264..26239170,2	HCT-116	colon:
37	chr7:26238958..26239930-chrX:49022734..49023422,2	Hela-S3	cervix:
38	chr5:137686616..137688749-chr7:26238842..26240565,2	MCF-7	breast:
39	chr2:47630144..47631042-chr7:26240246..26240807,2	Hela-S3	cervix:
40	chr11:82996883..82997431-chr7:26239995..26240652,2	Hela-S3	cervix:
41	chr7:25897759..25900219-chr7:26237473..26240299,2	MCF-7	breast:
42	chr12:56497477..56498446-chr7:26239816..26240326,2	Hela-S3	cervix:
43	chr2:27994146..27995072-chr7:26239372..26239915,2	Hela-S3	cervix:
44	chr1:16840486..16841080-chr7:26240022..26240793,2	HCT-116	colon:
45	chr7:26238021..26240209-chr7:26414170..26416928,2	MCF-7	breast:
46	chr7:26237378..26238939-chr7:26305389..26307516,2	K562	blood:
47	chr7:26190149..26194223-chr7:26238891..26242307,10	MCF-7	breast:
48	chr7:26124079..26126684-chr7:26237086..26240273,4	MCF-7	breast:
49	chr18:51750567..51751362-chr7:26240989..26241524,2	Hela-S3	cervix:
50	chr17:7387393..7388365-chr7:26240202..26240738,2	HCT-116	colon:

No data

Variant related genes	Relation type
CBX3	TF binding region
HNRNPA2B1	TF binding region
CBX3	CpG island
HNRNPA2B1	CpG island
ENSG00000197299	chromatin interactions
ENSG00000272269	chromatin interactions
ENSG00000167460	chromatin interactions
ENSG00000110921	chromatin interactions
ENSG00000102786	chromatin interactions
ENSG00000132475	chromatin interactions
ENSG00000120742	chromatin interactions
ENSG00000113141	chromatin interactions
ENSG00000050344	chromatin interactions
ENSG00000168924	chromatin interactions
ENSG00000198270	chromatin interactions
ENSG00000095261	chromatin interactions
ENSG00000146963	chromatin interactions
ENSG00000249915	chromatin interactions
ENSG00000113407	chromatin interactions
ENSG00000141564	chromatin interactions
ENSG00000121989	chromatin interactions
ENSG00000143590	chromatin interactions
ENSG00000007341	chromatin interactions
ENSG00000171150	chromatin interactions
ENSG00000074071	chromatin interactions
ENSG00000168803	chromatin interactions
ENSG00000266430	chromatin interactions
ENSG00000095794	chromatin interactions
ENSG00000255234	chromatin interactions
ENSG00000174282	chromatin interactions
ENSG00000230534	chromatin interactions
ENSG00000124789	chromatin interactions
ENSG00000085644	chromatin interactions
ENSG00000174004	chromatin interactions
ENSG00000086015	chromatin interactions
ENSG00000120833	chromatin interactions
ENSG00000120306	chromatin interactions
ENSG00000184898	chromatin interactions
ENSG00000186594	chromatin interactions
ENSG00000163162	chromatin interactions
ENSG00000134046	chromatin interactions
ENSG00000134825	chromatin interactions
ENSG00000017260	chromatin interactions
ENSG00000224509	chromatin interactions
ENSG00000132141	chromatin interactions
ENSG00000169813	chromatin interactions
ENSG00000163964	chromatin interactions
ENSG00000173207	chromatin interactions
ENSG00000236778	chromatin interactions
ENSG00000078618	chromatin interactions
ENSG00000132405	chromatin interactions
ENSG00000170515	chromatin interactions
ENSG00000173486	chromatin interactions
ENSG00000087086	chromatin interactions
ENSG00000248925	chromatin interactions
ENSG00000181222	chromatin interactions
ENSG00000166451	chromatin interactions
ENSG00000232383	chromatin interactions
ENSG00000164898	chromatin interactions
ENSG00000186312	chromatin interactions
ENSG00000168496	chromatin interactions
ENSG00000171223	chromatin interactions
ENSG00000160075	chromatin interactions
ENSG00000172493	chromatin interactions
ENSG00000105193	chromatin interactions
ENSG00000206652	chromatin interactions
ENSG00000131495	chromatin interactions
ENSG00000101109	chromatin interactions
ENSG00000188352	chromatin interactions
ENSG00000101187	chromatin interactions
ENSG00000243147	chromatin interactions
ENSG00000065243	chromatin interactions
ENSG00000099860	chromatin interactions
ENSG00000166398	chromatin interactions
ENSG00000134294	chromatin interactions
ENSG00000100227	chromatin interactions
ENSG00000189143	chromatin interactions
ENSG00000113522	chromatin interactions
ENSG00000138668	chromatin interactions
ENSG00000145860	chromatin interactions
ENSG00000225697	chromatin interactions
ENSG00000227071	chromatin interactions
ENSG00000095002	chromatin interactions
ENSG00000234444	chromatin interactions
ENSG00000226752	chromatin interactions
ENSG00000151208	chromatin interactions
ENSG00000110514	chromatin interactions
ENSG00000185885	chromatin interactions
ENSG00000137500	chromatin interactions
ENSG00000147862	chromatin interactions
ENSG00000263072	chromatin interactions
ENSG00000180198	chromatin interactions
ENSG00000225792	chromatin interactions
ENSG00000267002	chromatin interactions
ENSG00000141552	chromatin interactions
ENSG00000188554	chromatin interactions
ENSG00000183684	chromatin interactions
ENSG00000267680	chromatin interactions
ENSG00000106351	chromatin interactions
ENSG00000144560	chromatin interactions
ENSG00000269955	chromatin interactions
ENSG00000086300	chromatin interactions
ENSG00000162976	chromatin interactions
ENSG00000120733	chromatin interactions
ENSG00000185033	chromatin interactions
ENSG00000067225	chromatin interactions
ENSG00000207601	chromatin interactions
ENSG00000227477	chromatin interactions
ENSG00000063046	chromatin interactions
ENSG00000264052	chromatin interactions
ENSG00000198742	chromatin interactions
ENSG00000201801	chromatin interactions
ENSG00000132680	chromatin interactions
ENSG00000215014	chromatin interactions
ENSG00000199085	chromatin interactions
ENSG00000116489	chromatin interactions
ENSG00000183323	chromatin interactions
ENSG00000138029	chromatin interactions
ENSG00000214188	chromatin interactions
ENSG00000270022	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000139428	chromatin interactions
ENSG00000103121	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000268189	chromatin interactions
ENSG00000168806	chromatin interactions
ENSG00000235159	chromatin interactions
ENSG00000255135	chromatin interactions
ENSG00000220785	chromatin interactions
ENSG00000063177	chromatin interactions
ENSG00000199568	chromatin interactions
ENSG00000170759	chromatin interactions
ENSG00000198755	chromatin interactions
ENSG00000110628	chromatin interactions
ENSG00000259736	chromatin interactions
ENSG00000158636	chromatin interactions
ENSG00000143878	chromatin interactions
ENSG00000196542	chromatin interactions
ENSG00000197774	chromatin interactions
ENSG00000084754	chromatin interactions
ENSG00000095380	chromatin interactions
ENSG00000084733	chromatin interactions

Extended variants
information (count: 793 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:793 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34317198	chr7:26236235-26236236	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs564435160	chr7:26236271-26236272	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs370807816	chr7:26236281-26236282	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs202210103	chr7:26236293-26236294	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs546524344	chr7:26236294-26236295	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs566637719	chr7:26236296-26236297	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs374459472	chr7:26236298-26236299	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs368581359	chr7:26236301-26236302	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs372376249	chr7:26236314-26236315	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs117452181	chr7:26236320-26236321	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs367754376	chr7:26236321-26236322	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs201550338	chr7:26236327-26236328	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs543256235	chr7:26236333-26236334	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs529698240	chr7:26236334-26236335	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs373381657	chr7:26236340-26236341	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs537843060	chr7:26236341-26236342	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs187402056	chr7:26236356-26236357	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs571295720	chr7:26236360-26236361	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs73683262	chr7:26236362-26236363	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs553316026	chr7:26236365-26236366	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs370658742	chr7:26236374-26236375	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs371954975	chr7:26236392-26236393	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs375328702	chr7:26236397-26236398	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs369470213	chr7:26236401-26236402	Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs200438876	chr7:26236406-26236407	Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs372335871	chr7:26236410-26236411	Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs199612730	chr7:26236418-26236419	Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs201533402	chr7:26236420-26236421	Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs544243388	chr7:26236427-26236428	Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs377126393	chr7:26236467-26236468	Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs138786053	chr7:26236470-26236471	Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs368150379	chr7:26236497-26236498	Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs369903398	chr7:26236554-26236555	Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
34	rs191937523	chr7:26236572-26236573	Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs142061533	chr7:26236614-26236615	Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs200804634	chr7:26236644-26236645	Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
37	rs376006992	chr7:26236653-26236654	Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs370538706	chr7:26236666-26236667	Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs373058246	chr7:26236672-26236673	Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs73281546	chr7:26236689-26236690	Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs561238481	chr7:26236710-26236711	Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs549152114	chr7:26236711-26236712	Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs532321476	chr7:26236732-26236733	Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs569182690	chr7:26236745-26236746	Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs531627066	chr7:26236746-26236747	Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs146329231	chr7:26236747-26236748	Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs571197475	chr7:26236749-26236750	Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs17153396	chr7:26236756-26236757	Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs553845721	chr7:26236774-26236775	Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs73281548	chr7:26236778-26236779	Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Lung adenocarcinoma	17086460	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17086460	CNVD
Breast cancer	18852474	CNVD

Chromatin state (count:1003 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26224800-26236800	Strong transcription	HSMMtube	muscle
2	chr7:26227600-26236400	Strong transcription	Fetal Brain Female	brain
3	chr7:26228200-26236800	Strong transcription	H9 Cell Line	embryonic stem cell
4	chr7:26228200-26236800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:26228600-26236600	Strong transcription	Placenta Amnion	Placenta Amnion
6	chr7:26229400-26236600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
7	chr7:26230200-26237200	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
8	chr7:26230400-26236800	Genic enhancers	Liver	Liver
9	chr7:26230600-26236800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:26230800-26236600	Genic enhancers	Colon Smooth Muscle	Colon
11	chr7:26231600-26236600	Genic enhancers	Brain Cingulate Gyrus	brain
12	chr7:26231600-26236800	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr7:26231600-26236800	Genic enhancers	Brain Substantia Nigra	brain
14	chr7:26231600-26239600	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
15	chr7:26231800-26236800	Genic enhancers	Primary B cells from peripheral blood	blood
16	chr7:26231800-26239600	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr7:26232000-26236400	Genic enhancers	Brain Anterior Caudate	brain
18	chr7:26232000-26236600	Genic enhancers	Brain Inferior Temporal Lobe	brain
19	chr7:26232000-26236800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr7:26232000-26236800	Genic enhancers	Brain Angular Gyrus	brain
21	chr7:26232000-26237600	Genic enhancers	Fetal Heart	heart
22	chr7:26232200-26236400	Genic enhancers	Rectal Smooth Muscle	rectum
23	chr7:26232200-26236600	Genic enhancers	Primary monocytes fromperipheralblood	blood
24	chr7:26232200-26236800	Genic enhancers	Brain Hippocampus Middle	brain
25	chr7:26232200-26236800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr7:26232200-26237000	Genic enhancers	Fetal Intestine Large	intestine
27	chr7:26232200-26237200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
28	chr7:26232400-26236800	Genic enhancers	Skeletal Muscle Female	skeletal muscle
29	chr7:26232400-26237400	Transcr. at gene 5' and 3'	A549	lung
30	chr7:26233000-26236400	Genic enhancers	Stomach Smooth Muscle	stomach
31	chr7:26233000-26236600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr7:26233200-26236400	Genic enhancers	Fetal Thymus	thymus
33	chr7:26233200-26239600	Transcr. at gene 5' and 3'	Dnd41	blood
34	chr7:26233400-26237200	Genic enhancers	Sigmoid Colon	Sigmoid Colon
35	chr7:26233400-26242800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
36	chr7:26233800-26236800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:26234000-26236800	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
38	chr7:26234000-26237600	Transcr. at gene 5' and 3'	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr7:26234200-26236600	Genic enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr7:26234200-26240400	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
41	chr7:26234400-26236800	Genic enhancers	Fetal Lung	lung
42	chr7:26234400-26237600	Strong transcription	Placenta	Placenta
43	chr7:26234400-26238000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr7:26234600-26236600	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr7:26234600-26236600	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr7:26234600-26236800	Genic enhancers	Fetal Kidney	kidney
47	chr7:26234600-26236800	Weak transcription	Pancreas	Pancrea
48	chr7:26234600-26237400	Strong transcription	Fetal Muscle Trunk	muscle
49	chr7:26234600-26238200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr7:26234600-26238200	Weak transcription	Gastric	stomach

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